ClinVar Miner

List of variants in gene TBX1 reported as pathogenic for DiGeorge sequence

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Gene type:
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Total variants: 6
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NC_000022.11:g.(?_19755901)_(19759687_?)del rs0
NC_000022.11:g.(?_19755950)_(19759697_?)del rs0
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs0
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs0
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

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